rs755966311

This variant is located in the DNAH11 gene.

ClinVar annotation

Conflicting Classifications
2 submitters1 publication

Primary ciliary dyskinesia

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About DNAH11

This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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